16 New or updated NGS panels | Connective Tissue Gene Tests

June 12, 2017- Connective Tissue Gene Tests (CTGT) is pleased to announce 16 New or updated NGS panels and tests

Amyotrophic lateral sclerosis and related disorders NGS panel	ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP	Del Dup NGS
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel	COL12A1, COL6A3, COL6A2, COL6A1	Del Dup NGS
Brittle cornea syndrome NGS panel	PRDM5, ZNF469	Del Dup NGS
Distal hereditary motor neuropathy and related disorders NGS panel	BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, ATP7A, TRPV4	Del Dup NGS
Distal Myopathy NGS panel	ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant	C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive	ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, PRDM5, SLC39A13, ZNF469	Del Dup NGS
Ehlers-Danlos syndrome NGS panel - Recessive	ADAMTS2, AEBP1, B3GALT6, B4GALT7, CHST14, DSE, FKBP14, ATP7A, COL1A2, PLOD1, PRDM5, SLC39A13, ZNF469	Del Dup NGS
Ehlers-Danlos syndrome, periodontal type NGS panel	C1R, C1S	Del Dup NGS
Epidermolysis bullosa NGS panel	CAST, CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5, COL7A1	Del Dup NGS
Ichthyosis NGS panel	ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5	Del Dup NGS
Mucopolysaccharidosis NGS panel	ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH	Del Dup NGS
Myofibrillar myopathy and related disorders NGS panel	ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1	Del Dup NGS
Smith-Lemli-Opitz syndrome	DHCR7	Del Dup NGS
Snyder-Robinson mental retardation syndrome	SMS	Del Dup NGS
Waardenburg syndrome NGS panel	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR	Del Dup NGS